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Detailed text transcripts for TV channel - CNN - 20101002:03:14:00

Undiagnosed diseases program. i felt certain that if there wasn t a diagnosis, i felt like it was pretty certain that it would kill me. reporter: sally s husband, buddy. oh, it was scary. you just waiting to find out what s next. what normal, functional thing people have to do to get through the day was she not going to be able to do next. reporter: no one could offer an explanation for what was happening to sally. the medical s.w.a.t. team of doctors and specialists as the undiagnosed diseases program quickly ruled out one possibility. bottom line, bones are not involved, it s not acromegaly, it s just confined to the muscle. what in the world could this be? reporter: that s always the question here. kylie and her parents made their way from reno, nevada, to bethesda, maryland, and the nih in hopes of finding out what in the world could be wrong with kylie. do you want to know what s going on with kylie if the next sentence was, but there s nothing we can do about it? ....

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Detailed text transcripts for TV channel - CNN - 20101002:03:08:00

Mystery did not begin until later in life. she was in her late 40s when her muscles began to grow out of control. do you remember looking at her chart for the first time? yes, i do. this was referred by an end dough corinne not at duke. and the endocrinologist said in my 38 years i ve never seen a case like this. something like that. okay? that s sort of impressive. what does that mean? well, when you see a picture, then, that s pretty impressive. reporter: like all the patients selected for the undiagnosed diseases program, sally and her husband and kylie and her mom and dad would come to the nih for a week of exhaustive and complex tests. where i medical strike force was trying to save their lives. i went in there in hopes of finding an answer. this is our last hope but at the same time, we finally made it to the people that are going to find out what s wrong. ....

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Detailed text transcripts for TV channel - CNN - 20101002:06:05:00

Nih, it s probably a zebra. reporter: it s not only about saving lives. here they re also hoping to discover new diseases and create new science. it s really sort of the inspiration that we all have as clinical researchers. reporter: in two years, the udp has had more than 3,000 inquiries. this is an accept ansz letter. reporter: udp has accepted a little over 300 patients. you have to tell a lot of people no. we do. yes. reporter: seems like that would be hard. it is hard. it s very hard. i have to take some solace in the fact that even though we re turning down a lot of people, we re still helping a chosen few. reporter: the few, with mysterious conditions no one can diagnose. kylie dawn mcpeak was born in may of 2004. ....

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Detailed text transcripts for TV channel - CNN - 20101002:06:37:00

Been at the udp for a week. dr. gahl and his team have been sifting through all the data they ve amassed on her. do you have a diagnosis for kylie? no, but we have a few good leads. for a while they suspected a rare disorder that affects the brain s motor strip. but tests came back, clues showed the electrical charges in kylie s brain were not coming from just one area but in fact from all over. so they were back to square one. well, you try to differentiate whether this is something that was genetic or something environmental, in other words, what happened to her. really that s the dichotomy here. reporter: that s sort of the first step for everybody. genes or the environment. pretty much. and sometimes you can get at one or the other of those more easily. reporter: in time, an analysis of kylie s dna revealed the genetic clue. they found a mutation in a particular gene that makes a protein called laforin. is it possible it s truly something that s never been described b ....

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Detailed text transcripts for TV channel - CNN - 20101002:03:12:00

We create and broadcast content and then distribute it across tv, the web, and via mobile. i even use the web to get paid. with acceptpay from american express open, we now invoice advertisers and receive payments digitally. and i get paid on average three weeks faster. booming is never looking for a check in the mail. because it s already in my email. kylie mcpeak was sick and getting sicker. her parents had spent nearly two years with specialists. perfect. reporter: no one could diagnose what was happening to kylie. her voice tremored the twitch that s were convulsing the entire right side of her body. i m a bad parent. i feel like, why can t i help my ....

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